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Epilepsy: Finding the Underlying Cause

Genetic Testing for Epilepsy

In the past two decades, major advances in DNA analysis have revolutionized scientists’ understanding of the genetic causes of epilepsy. More than 100 genes have now been associated with the disease, although many patients with epilepsy do not know the cause of their condition.

“Seizures and epilepsy are typically due to an underlying cause, but that cause is often not identified,” says Elizabeth E. Gerard, MD, an epileptologist at Northwestern Medicine Comprehensive Epilepsy Center and director of the Epilepsy Neurogenetics Clinic. “Genetic testing is an important tool that can find answers for certain patients with epilepsy.”

Finding a genetic explanation for a patient’s epilepsy can sometimes lead to more personalized and targeted treatments, and can also clarify the risk of epilepsy in other family members.

Genetic Testing for Epilepsy

The Neurogenetics Counseling and Testing Program at Northwestern Memorial Hospital offers genetic counseling and testing to adult patients with epilepsy. While historically most genetic testing programs have been tailored to pediatric patients with epilepsy, Northwestern Medicine’s Epilepsy Neurogenetics Clinic is unique in that it is one of a few programs in the country dedicated to adults.

Patients seen at the Epilepsy Neurogenetics Clinic have the opportunity to discuss if clinical genetic testing would be appropriate for them. Patients also have the opportunity to contribute to ongoing research in epilepsy genetics. The clinic works closely with leading scientists, including those at the Carvill Lab of Northwestern University Feinberg School of Medicine. These scientists and specialists use gene discovery and molecular biology to identify new treatments for epilepsy, and their work paves the way to new discovery for those whose cause remains undetermined.

“Ultimately, uncovering the genetic changes in patients with epilepsy can help us better understand what causes epilepsy and help us develop new treatments for all patients with epilepsy,” says Dr. Gerard.

You may be a candidate for genetic testing if you have one or more of the following:

Learn more about epilepsy, including how genetic counseling can be beneficial.

Northwestern Medicine Comprehensive Epilepsy Center